Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10,911 rare diseases

Spondylometaphyseal dysplasia, Sedaghatian type

ORPHA:93317

Spondyloperipheral dysplasia-short ulna syndrome

ORPHA:1856

Spontaneous heparin-induced thrombocytopenia

Spontaneous HIT

ORPHA:699021

Spontaneous intestinal perforation

Focal intestinal perforation · Isolated perforation

ORPHA:645793

Spontaneous periodic hypothermia

Episodic spontaneous hypothermia · Shapiro syndrome

ORPHA:29822

Sporadic adult-onset ataxia of unknown etiology

Idiopathic late-onset cerebellar ataxia · SAOA

ORPHA:247234

Sporadic Creutzfeldt-Jakob disease

Sporadic CJD

ORPHA:204

Sporadic fatal insomnia

ORPHA:586130

Sporadic fetal brain disruption sequence

ORPHA:1665

Sporadic hyperekplexia

ORPHA:306776

Sporadic idiopathic steroid-resistant nephrotic syndrome

Sporadic idiopathic nephrosis

ORPHA:84271

Sporadic infantile bilateral striatal necrosis

Sporadic IBSN · Sporadic infantile striatonigral degeneration

ORPHA:225147

Sporadic pheochromocytoma/secreting paraganglioma

ORPHA:276621

Sporadic porphyria cutanea tarda

Porphyria cutanea tarda type I

ORPHA:443057

Sporotrichosis

ORPHA:826

Spotted fever rickettsiosis

Spotted fever rickettsiae disease

ORPHA:102022

Sprengel deformity

High scapula

ORPHA:3181

Squamous cell carcinoma of gallbladder and extrahepatic biliary tract

Squamous cell carcinoma of gallblader and EBT

ORPHA:424996

Squamous cell carcinoma of head and neck

HNSCC · Head and neck squamous cell carcinoma

ORPHA:67037

Squamous cell carcinoma of liver and intrahepatic biliary tract

Squamous cell carcinoma of liver and IBT

ORPHA:424975

Squamous cell carcinoma of oral cavity and lip

ORPHA:502369

Squamous cell carcinoma of pancreas

Pancreatic squamous cell carcinoma

ORPHA:424039

Squamous cell carcinoma of the anal canal

ORPHA:424019

Squamous cell carcinoma of the cervix uteri

Cervical squamous cell carcinoma

ORPHA:213767

Squamous cell carcinoma of the colon

ORPHA:423994

Squamous cell carcinoma of the corpus uteri

Endometrial squamous cell carcinoma

ORPHA:213716

Squamous cell carcinoma of the esophagus

ESCC · Esophageal epidermoid carcinoma

ORPHA:99977

Squamous cell carcinoma of the hypopharynx

ORPHA:494547

Squamous cell carcinoma of the larynx

ORPHA:494550

Squamous cell carcinoma of the lip

ORPHA:502366

Squamous cell carcinoma of the nasal cavity and paranasal sinuses

Squamous cell carcinoma of the nasal cavity and sinuses

ORPHA:500464

Squamous cell carcinoma of the oral cavity

ORPHA:502363

Squamous cell carcinoma of the oral tongue

Oral tongue squamous cell carcinoma · OTSCC

ORPHA:457252

Squamous cell carcinoma of the oropharynx

ORPHA:500478

Squamous cell carcinoma of the penis

Penile squamous cell carcinoma

ORPHA:398058

Squamous cell carcinoma of the rectum

Rectal squamous cell carcinoma

ORPHA:424002

Squamous cell carcinoma of the small intestine

Squamous cell carcinoma of the small bowel

ORPHA:423968

Squamous cell carcinoma of the stomach

Gastric squamous cell carcinoma

ORPHA:418959

SRD5A3-CDG

CDG-Iq · CDG1Q

ORPHA:324737

SSR4-CDG

CDG syndrome type Iy · CDG-Iy

ORPHA:370927

St. Louis encephalitis

Saint Louis encephalitis

ORPHA:83484

ST3GAL3-CDG

ST3GAL3-related congenital disorder of glycosylation · ST3GAL3-related carbohydrate deficient glycoprotein syndrome

ORPHA:697734

STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

ORPHA:502434

Stapes ankylosis with broad thumbs and toes

Teunissen-Cremers syndrome

ORPHA:140917

Staphylococcal necrotizing pneumonia

ORPHA:36238

Staphylococcal scalded skin syndrome

Generalized exfoliative disease · SSSS

ORPHA:36236

Staphylococcal scarlet fever

ORPHA:36235

Staphylococcal toxemia

ORPHA:300579